Response of subependymal giant cell astrocytoma with spinal cord metastasis to everolimus.
نویسندگان
چکیده
BACKGROUND Brain subependymal giant cell astrocytomas (SEGAs) in patients with tuberous sclerosis have been reported to respond to everolimus. METHODS A 15-year-old male patient with intractable seizures and multiple SEGAs of the brain developed leptomeningeal enhancement and multiple metastatic, histologically confirmed SEGAs of the spinal cord. He received daily everolimus at a dose of 3 mg/m for 6 weeks, which was then increased to 6 mg/m. RESULTS Magnetic resonance image of the brain and spine showed significant reduction in the size of SEGAs after 6 weeks of treatment. The patient has remained free of progression for 24 months. Additional benefits included: excellent seizure control, decrease in the size of cardiac rhabdomyomas, and improved quality of life. CONCLUSIONS We describe a rare case of metastatic SEGA, which was successfully treated with everolimus.
منابع مشابه
CD99: A potential Diagnostic Marker for Differentiating Sub-ependymal Giant Cell Astrocytoma From Other Mimickers: A Report of Five Cases
Background: Tuberous sclerosis (TSC) is inherited as an autosomal dominant disease, characterized by skin lesion and tubers in vital organs, especially brain in three categories including subependymal nodules, cortical tubers and subependymal giant cell astrocytoma. Subependymal giant cell astrocytoma (SEGA) is an indolent neoplasm which usually arises at the cauda tha...
متن کاملEverolimus for the treatment of subependymal giant cell astrocytoma probably causing seizure aggravation in a child with tuberous sclerosis complex: a case report.
We are reporting on a 13.5-year-old girl with tuberous sclerosis complex (TSC) who was treated with everolimus because of giant cell astrocytoma and bilateral angiomyolipoma. She suffered from pharmacoresistant partial epilepsy with clusters of tonic and tonic-clonic seizures. Treatment with carbamazepine and sulthiame had led to a stable situation for more than 2.5 years. The dosage of everoli...
متن کاملEFFECTS: an expanded access program of everolimus for patients with subependymal giant cell astrocytoma associated with tuberous sclerosis complex
BACKGROUND Everolimus, a mammalian target of rapamycin (mTOR) inhibitor, has been shown to be effective and safe in the treatment of subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC). The Everolimus For Fast Expanded aCcess in TSC SEGA (EFFECTS) study was designed to provide everolimus access to patients with SEGA associated with TSC and to mainly asses...
متن کاملEfficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial.
BACKGROUND Tuberous sclerosis complex is a genetic disorder leading to constitutive activation of mammalian target of rapamycin (mTOR) and growth of benign tumours in several organs. In the brain, growth of subependymal giant cell astrocytomas can cause life-threatening symptoms--eg, hydrocephalus, requiring surgery. In an open-label, phase 1/2 study, the mTOR inhibitor everolimus substantially...
متن کاملEverolimus in the treatment of subependymal giant cell astrocytomas, angiomyolipomas, and pulmonary and skin lesions associated with tuberous sclerosis complex
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder caused by inactivating mutations in either the TSC1 or TSC2 genes. It is characterized by the development of multiple, benign tumors in several organs throughout the body. Lesions occur in the brain, kidneys, heart, liver, lungs, and skin and result in seizures and epilepsy, mental retardation, autism, and renal and pulm...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Journal of pediatric hematology/oncology
دوره 36 7 شماره
صفحات -
تاریخ انتشار 2014